Variant report

Variant	rs4802190
Chromosome Location	chr19:44196226-44196227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13344768	0.96[ASN][1000 genomes]
rs13344919	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs28468406	0.94[ASN][1000 genomes]
rs28677840	0.96[ASN][1000 genomes]
rs4802191	0.94[ASN][1000 genomes]
rs4802192	0.94[ASN][1000 genomes]
rs4802193	0.85[ASN][1000 genomes]
rs519137	0.88[ASN][1000 genomes]
rs520130	0.96[ASN][1000 genomes]
rs59684608	0.94[ASN][1000 genomes]
rs73560528	0.85[ASN][1000 genomes]
rs740590	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44191400-44203600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:44191600-44196600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr19:44192200-44197200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:44194800-44199400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr19:44196000-44196400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr19:44196000-44197000	ZNF genes & repeats	Primary B cells from cord blood	blood
7	chr19:44196200-44199000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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